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重度发育迟缓、癫痫与新生儿糖尿病（DEND）综合征：一例报告

Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.

作者信息

Helmi Muhd Alwi Muhd, Hussain Suhaimi

机构信息

Paediatric Department, Kulliyyah of Medicine, International Islamic University Malaysia.

Paediatric Department, School of Medical Sciences, University Sains Malaysia.

出版信息

J ASEAN Fed Endocr Soc. 2020;35(1):125-128. doi: 10.15605/jafes.035.01.22. Epub 2020 Apr 25.

DOI:10.15605/jafes.035.01.22
PMID:33442181
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7784171/
Abstract

Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene with delayed presentation beyond 6 months of age and failure to transition to glibenclamide. This report signifies the phenotypical variability among patients with the same genetic mutation and the different response to treatment.

摘要

发育迟缓、癫痫与新生儿糖尿病（DEND）综合征是永久性新生儿糖尿病最严重的形式，由KCNJ11基因突变引起，该突变占大多数病例。我们报告了马来西亚首例DEND综合征，其KCNJ11（Kir6.2）基因存在杂合错义突变Q52R，发病延迟超过6个月，且无法转换为使用格列本脲治疗。本报告表明了具有相同基因突变的患者之间存在表型变异性以及对治疗的不同反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/7784171/654c243168f9/JAFES-35-1-125-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/7784171/654c243168f9/JAFES-35-1-125-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62bf/7784171/654c243168f9/JAFES-35-1-125-g001.jpg

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本文引用的文献

1
K Channel Mutations and Neonatal Diabetes.钾通道突变与新生儿糖尿病
Intern Med. 2017 Sep 15;56(18):2387-2393. doi: 10.2169/internalmedicine.8454-16. Epub 2017 Aug 21.
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Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.欧洲裔巴西1型和2型糖尿病患者KCNJ11基因中的E23K（rs5219）多态性。
Genet Mol Res. 2017 Apr 5;16(2):gmr-16-02-gmr.16029543. doi: 10.4238/gmr16029543.
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Neonatal Diabetes and the K Channel: From Mutation to Therapy.新生儿糖尿病与钾通道：从突变到治疗
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First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.首例 KCNJ11 Q52R 突变导致的新生儿糖尿病经磺脲类药物成功转换治疗。
J Diabetes Investig. 2017 Sep;8(5):716-719. doi: 10.1111/jdi.12620. Epub 2017 Feb 16.
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Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.磺脲类药物无反应的KCNJ11相关糖尿病中胰岛素阳性细胞数量减少的保存
J Clin Endocrinol Metab. 2017 Jan 1;102(1):1-5. doi: 10.1210/jc.2016-2826.
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Neonatal diabetes with intractable epilepsy: DEND syndrome.伴有难治性癫痫的新生儿糖尿病：DEND综合征。
Indian J Pediatr. 2014 Dec;81(12):1387-8. doi: 10.1007/s12098-014-1486-4. Epub 2014 Jun 10.
7
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.人类基因突变数据库：为临床和分子遗传学、诊断测试以及个性化基因组医学构建全面的基因突变知识库。
Hum Genet. 2014 Jan;133(1):1-9. doi: 10.1007/s00439-013-1358-4.
8
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